ClinVar Miner

Variants in gene PRF1 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
210 24 0 7 16 0 4 25

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 2 1 1
likely pathogenic 3 0 2 0 0
uncertain significance 2 2 0 10 8
likely benign 1 0 10 0 4
benign 1 0 8 4 0

All variants with conflicting interpretations #

Total variants: 25
Download table as spreadsheet
HGVS dbSNP
NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser) rs145463632
NM_001083116.3(PRF1):c.111C>T (p.Phe37=) rs547321451
NM_001083116.3(PRF1):c.1140G>A (p.Pro380=) rs144926997
NM_001083116.3(PRF1):c.1153C>T (p.Arg385Trp) rs551046401
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys) rs200534908
NM_001083116.3(PRF1):c.1304C>T (p.Thr435Met) rs28933376
NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val) rs138126912
NM_001083116.3(PRF1):c.132C>A (p.Ala44=) rs181323749
NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro) rs751161742
NM_001083116.3(PRF1):c.1350G>A (p.Thr450=)
NM_001083116.3(PRF1):c.148G>A (p.Val50Met) rs776299562
NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys) rs200430442
NM_001083116.3(PRF1):c.1620A>G (p.Gln540=) rs149776121
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132
NM_001083116.3(PRF1):c.286C>A (p.Arg96=) rs144024245
NM_001083116.3(PRF1):c.368G>A (p.Arg123His) rs139336186
NM_001083116.3(PRF1):c.519G>A (p.Thr173=) rs112883709
NM_001083116.3(PRF1):c.519G>C (p.Thr173=) rs112883709
NM_001083116.3(PRF1):c.591C>T (p.Leu197=) rs767273601
NM_001083116.3(PRF1):c.630C>T (p.Pro210=) rs144004164
NM_001083116.3(PRF1):c.632C>T (p.Ala211Val) rs368524364
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375
NM_001083116.3(PRF1):c.807C>T (p.His269=) rs147453010
NM_001083116.3(PRF1):c.96G>A (p.Lys32=) rs2228018

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